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安大略省新生儿筛查计划:一种新颖的转诊中心模式。

The Ontario Newborn Screening Program: A novel referral center model.

机构信息

The Hospital for Sick Children, 555 University Avenue, M5G1X8, Toronto, Ontario, Canada.

Departments of Pediatrics and Biochemistry, University of Toronto, Toronto, Ontario, Canada.

出版信息

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2023 Nov;66(11):1205-1213. doi: 10.1007/s00103-023-03786-1. Epub 2023 Oct 4.

DOI:10.1007/s00103-023-03786-1
PMID:37792011
Abstract

Newborn screening (NBS) for inherited and congenital disorders is a form of secondary disease prevention and a public health responsibility. The development of NBS programs is one of the most important achievements in health care. While the scope of the screening targets has expanded and methods have evolved, the screening process has remained essentially unchanged.In 2006, the Canadian province of Ontario implemented a new provincial NBS program that differs from conventional programs. One of the key differences is the structured and fully funded partnership between the ministry of health, the NBS laboratory, and the treatment centers in the province. Each one of these partners has defined roles and accountability. Another difference is the move away from the conventional recall process to an immediate referral system to selected treatment centers.In this article, we report our experience with the new screening structure and discuss it as a model for future NBS programs.

摘要

新生儿筛查(NBS)是一种二级疾病预防形式,也是公共卫生的责任。NBS 项目的发展是医疗保健领域最重要的成就之一。尽管筛查目标的范围扩大了,方法也有所发展,但筛查过程基本保持不变。2006 年,加拿大安大略省实施了一项新的省级 NBS 项目,与传统项目不同。其中一个主要区别是卫生部、NBS 实验室和该省治疗中心之间建立了结构化和全面资助的伙伴关系。每个合作伙伴都有明确的角色和责任。另一个区别是从传统的召回过程转变为立即向选定的治疗中心转诊系统。本文报告了我们对新筛查结构的经验,并将其作为未来 NBS 项目的模式进行了讨论。

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本文引用的文献

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Building a Newborn Screening Information Management System from Theory to Practice.构建新生儿筛查信息管理系统:从理论到实践
Int J Neonatal Screen. 2019 Jan 23;5(1):9. doi: 10.3390/ijns5010009. eCollection 2019 Mar.
2
Psychosocial Response to Uncertain Newborn Screening Results for Cystic Fibrosis.对囊性纤维化新生儿筛查结果不确定的心理社会反应。
J Pediatr. 2017 May;184:165-171.e1. doi: 10.1016/j.jpeds.2017.01.049. Epub 2017 Mar 6.
3
Impact of false-positive newborn metabolic screening results on early health care utilization.
新生儿代谢筛查假阳性结果对早期医疗保健利用的影响。
Genet Med. 2009 Oct;11(10):716-21. doi: 10.1097/GIM.0b013e3181b3a61e.
4
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007).通过实施基于串联质谱的二级检测降低新生儿筛查的假阳性率:梅奥诊所的经验(2004 - 2007年)
J Inherit Metab Dis. 2007 Aug;30(4):585-92. doi: 10.1007/s10545-007-0691-y. Epub 2007 Jul 23.
5
A review of the psychosocial effects of false-positive results on parents and current communication practices in newborn screening.新生儿筛查中假阳性结果对父母的心理社会影响及当前沟通实践的综述。
J Inherit Metab Dis. 2006 Oct;29(5):677-82. doi: 10.1007/s10545-006-0381-1. Epub 2006 Aug 17.
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Expanded newborn screening for biochemical disorders: the effect of a false-positive result.扩大新生儿生化疾病筛查:假阳性结果的影响。
Pediatrics. 2006 Jun;117(6):1915-21. doi: 10.1542/peds.2005-2294.
7
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications.通过电喷雾电离串联质谱法对先天性代谢缺陷进行扩大新生儿筛查:结果、结局及意义
Pediatrics. 2003 Jun;111(6 Pt 1):1399-406. doi: 10.1542/peds.111.6.1399.
8
The science and politics of screening newborns.
N Engl J Med. 2002 Apr 4;346(14):1084-5. doi: 10.1056/NEJM200204043461411.
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Clin Chem. 1998 Dec;44(12):2401-2.